723976005: Fibromatosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Fibromatosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3427962012 Fibromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3427963019 Fibromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3427962012 Fibromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3427963019 Fibromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fibromatosis	Associated morphology	Fibromatosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fibromatosis	Is a	Disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Gingival fibromatosis	Is a	True	Fibromatosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Musculoskeletal fibromatosis	Is a	True	Fibromatosis	Inferred relationship	Existential restriction modifier (core metadata concept)
History of fibromatosis (situation)	Associated finding	True	Fibromatosis	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pachydermodactyly	Is a	True	Fibromatosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Aggressive fibromatosis	Is a	True	Fibromatosis	Inferred relationship	Existential restriction modifier (core metadata concept)
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait.	Is a	False	Fibromatosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder)	Is a	True	Fibromatosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Myofibromatosis	Is a	True	Fibromatosis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets